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Human Mutation|December 16, 2014
Mutations in SNRPB, encoding components of the core splicing machinery, cause cerebro-costo-mandibular syndromeSéverine Bacrot, Mathilde Doyard, Céline Huber, et al.Human Mutation|December 16, 2014
Inhibition of RAS activation due to a homozygous ezrin variant in patients with profound intellectual disabilityLars Björn Riecken, Hasan Tawamie, Carsten Dornblut, et al.Human Mutation|December 16, 2014
Somatic MMR gene mutations as a cause for MSI-H sebaceous neoplasms in Muir-Torre syndrome-like patientsMarie-Odile Joly, Valéry Attignon, Jean-Christophe Saurin, et al.Human Mutation|December 16, 2014
Functional analysis of FOXE3 mutations causing dominant and recessive ocular anterior segment diseaseLily Islam, Daniel Kelberman, Laura Williamson, et al.Human Mutation|December 17, 2014
Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathiesKristien Peeters, Sven Bervoets, Teodora Chamova, et al.Human Mutation|August 8, 2015
PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseasesOrion J Buske, Marta Girdea, Sergiu Dumitriu, et al.Human Mutation|August 8, 2015
A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT SyndromePaolo Prontera, Lucia Micale, Alberto Verrotti, et al.Human Mutation|December 24, 2015
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation SequencingAlan S Ma, John R Grigg, Gladys Ho, et al.Human Mutation|January 21, 2016
DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth DiseaseYoung Bin Hong, Junghee Kang, Ji Hyun Kim, et al.Human Mutation|October 13, 2015
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye AnomaliesMaja Sukalo, Felix Tilsen, Hülya Kayserili, et al.Pageof 582